Cancer family history and genetic testing: are malpractice adjudications waiting to happen?

2002 ◽  
Vol 97 (3) ◽  
pp. 518-520 ◽  
Author(s):  
Henry T. Lynch
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Cancer Family ◽  
Cancer Family History

Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI).

2012 ◽  
Vol 30 (18_suppl) ◽  
pp. CRA1505-CRA1505 ◽  
Author(s):  
Marie Wood ◽  
Pamela Kadlubek ◽  
Karen H. Lu ◽  
Dana Wollins ◽  
Jeffrey N. Weitzel ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Pilot Testing ◽  
Cancer Family ◽  
Referral Rates ◽  
Cancer Family History ◽  
Counseling And Testing ◽  
Oncology Practice

CRA1505 Background: The cancer family history (CFH) is an important tool for identification of individuals for genetic counseling/testing (GC/GT). Prior studies demonstrate a low rate of family history documentation and low referral rates for genetic counseling and genetic testing. Methods: In 2011ASCO began pilot testing new measures in QOPI to evaluate the practice of family history taking and referral for genetic counseling/testing in patients with either breast cancer (BC) or colorectal cancer (CRC). The measures assessed the presence or absence of CFH in 1st/2nd degree relatives, age at cancer diagnosis, referral for GC/GT and outcomes of referral. Results: Between September and October 2011 272 practices pilot tested these measures and reported on 10,466 patients (BC 6569, CRC 3897). 77.4% of all charts reviewed documented presence or absence of CFH in 1st degree relatives (BC 81.2% (CI 80-82%), CRC 77.4% (CI 76-79%), p= <0.001) and 61.5% of charts documented presence or absence of CFH in 2nd degree relatives (BC 68.9% (CI 68-70%), CRC 57.3% (CI 56-59%) p=<0.001). Age at diagnosis was documented for all relatives with cancer in 30.7% of charts (BC 45.2% (CI 44-47%), CRC 35.4% (CI 34-37%) p=<0.001). Patients were referred for GC/GT in 22.1% of all charts reviewed (BC 29.1% (CI 28-30%), CRC 19.6% (CI, 18-21%) p=<0.001). Of patients with hereditary risk (defined by selected risk guidelines) 52.2% of BC and 26.4% CRC were referred for GC/GT. When genetic testing was performed by the practice consent was documented 77.7% of the time and discussion of results was documented 78.8% of the time. Conclusions: Appropriate referral for GC/GT requires a complete and accurate CFH. In this pilot testing of QOPI measures we identified a higher quality of CFH information than expected though with room for improvement. Significant differences were seen between BC and CRC charts with greater accuracy of CFH and higher referral rates among BC patients. To obtain improvement in the identification and management of patients at high risk, significant improvements are needed. Education is part of the answer.

Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma

2015 ◽  
Vol 33 (28) ◽  
pp. 3124-3129 ◽  
Author(s):  
Spring Holter ◽  
Ayelet Borgida ◽  
Anna Dodd ◽  
Robert Grant ◽  
Kara Semotiuk ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Pancreatic Ductal Adenocarcinoma ◽  
Brca Mutation ◽  
Ductal Adenocarcinoma ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Cancer Family ◽  
Cancer Family History ◽  
Testing Criteria

Purpose The main purpose of this study was to determine the prevalence of pathogenic BRCA1 and BRCA2 mutations in a consecutively ascertained clinic-based cohort of patients with pancreatic ductal adenocarcinoma and describe the clinical and family history characteristics. Patients and Methods Unselected, consecutive, incident patients with pancreatic ductal adenocarcinoma were recruited at a single cancer center over a 2-year period. Participants provided blood for DNA analysis and cancer family history, and cancer treatment records were reviewed. DNA from all patients was analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1 and BRCA2. Results Three hundred six patients were eligible for analysis. Pathogenic germline BRCA mutations were identified in 14 patients (4.6%; 95% CI, 2.2% to 6.9%), including 11 patients with a BRCA2 mutation and three patients with a BRCA1 mutation. Having a cancer family history that met genetic testing criteria of the National Comprehensive Cancer Network or the Ontario Ministry of Health and Long-Term Care or self-reporting as Ashkenazi Jewish was significantly associated with BRCA mutation carrier status (P = .02, P < .001, and P = .05, respectively). However, the majority of the BRCA mutation–positive patients did not actually meet these genetic testing criteria. Conclusion Pathogenic BRCA mutations were identified in 4.6% of a large cohort of clinic-based patients. Considering the implications for family members of BRCA carriers, and possibly tailored chemotherapeutic treatment of patients, our finding has implications for broader BRCA genetic testing for patients with pancreatic ductal adenocarcinoma.

scholarly journals What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care?

2019 ◽  
Vol 28 (2) ◽  
pp. 213-221 ◽  
Author(s):  
Jude E. Cléophat ◽  
Ana Marin ◽  
Sylvie Pelletier ◽  
Yann Joly ◽  
Pierre Gagnon ◽  
...  
Keyword(s):  
Palliative Care ◽  
Genetic Testing ◽  
Family History ◽  
Cancer Patients ◽  
Cancer Family ◽  
Cancer Family History

Cancer family history triage: a key step in the decision to offer screening and genetic testing

2012 ◽  
Vol 12 (3) ◽  
pp. 497-502 ◽  
Author(s):  
Paul Brennan ◽  
Oonagh Claber ◽  
Tracey Brennan
Keyword(s):  
Genetic Testing ◽  
Family History ◽  
Cancer Family ◽  
Cancer Family History

Breast cancer family history as a risk factor for early onset breast cancer

1988 ◽  
Vol 11 (3) ◽  
pp. 263-267 ◽  
Author(s):  
Henry T. Lynch ◽  
Patrice Watson ◽  
Theresa Conway ◽  
Mary Lee Fitzsimmons ◽  
Jane Lynch
Keyword(s):  
Breast Cancer ◽  
Risk Factor ◽  
Family History ◽  
Early Onset ◽  
Early Onset Breast Cancer ◽  
Breast Cancer Family ◽  
Cancer Family ◽  
Cancer Family History ◽  
Breast Cancer Family History

0-103. One year psychosocial outcomes for women attending a breast cancer Family History Clinic

The Breast ◽  
1997 ◽  
Vol 6 (4) ◽  
pp. 253-254
Author(s):  
P. Hopwood ◽  
F. Keeling ◽  
J. Thompson ◽  
C. Pool ◽  
A. Howell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Psychosocial Outcomes ◽  
Breast Cancer Family ◽  
Cancer Family ◽  
Cancer Family History ◽  
One Year ◽  
Breast Cancer Family History

scholarly journals Educational needs about cancer family history and genetic counseling for cancer risk among frontline healthcare clinicians in New York City

2011 ◽  
Vol 13 (9) ◽  
pp. 785-793 ◽  
Author(s):  
Katarina M. Sussner ◽  
Lina Jandorf ◽  
Heiddis B. Valdimarsdottir
Keyword(s):  
New York ◽  
New York City ◽  
Genetic Counseling ◽  
Family History ◽  
Cancer Risk ◽  
York City ◽  
Educational Needs ◽  
Cancer Family ◽  
Cancer Family History

BRCA mutations and their clinical relevance in unselected pancreatic cancer population.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e16240-e16240
Author(s):  
Viola Barucca ◽  
Andrea Petricca Mancuso ◽  
Salvatore De Marco ◽  
Daniela Iacono ◽  
Carmelilia De Bernardo ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Disease Progression ◽  
Personal History ◽  
First Line ◽  
Brca Mutations ◽  
Cancer Family ◽  
Cancer Family History ◽  
Brca 2 ◽  
History Of

e16240 Background: Germline pathogenetic mutations in BRCA1/2 genes are described in pancreatic cancer patients (PCP) in about 5–9% of cases. The purpose of this study was to determine their relevance in an unselected consecutive cohort of PCP describing family and clinical history. Methods: Patients (pts) were recruited at a single cancer center from September 2019 to October 2020. Participants provided blood for DNA analysis; cancer family history and treatment records were reviewed; DNA was analyzed by Next Generation Sequencing and multiplex ligation-dependent probe amplification for germline variants in BRCA1/2 Results: 69 pts were included, 61 (88,4%) with locally advanced and metastatic pancreatic cancer received first line chemotherapy and 38 (62%) were full eligible for BRCA analysis; 8 out of 69 pts were BRCA screened even if in adjuvant setting, 10 patients are still under evaluation. Out of the 38 first line screened PCP germline BRCA mutations were found in 9 (19%): 4 pts (8,7%) with pathogenetic BRCA-2 variants (subgroup 1 – S1) and 5 pts (10,8%) with variants of unknown significances (VUSs), i.e. c.5339T>C and c.5096G>A in BRCA1 (subgroup 2 – S2). Samples from 29 pts were established as BRCA wild-type (subgroup 3 – S3). Pathogenetic BRCA-2 variants were observed in 2 male and 2 female (median age, 61.5 years, range 48-69), 3 out 4 without family history of breast, ovarian and pancreatic cancer, one patient (pt) had ovarian cancer family history. All pts had a negative personal history of others cancers. All S1 pts received FOLFIRINOX regimen achieving one complete response, 2 partials responses and 1 disease progression with RECIST criteria. The S2 included 2 male and 3 female (median age, 61 years, range 45-70) 2 with family history of pancreatic cancer, no pt had personal history of others cancers; 2 pts had stable disease and 3 disease progression receiving platinum-based regimen (4 pts) and gemcitabine/nabpaclitaxel (1 pt), respectively. Platinum responders were observed only in the well known pathogenetic BRCA-2 variants group with twice a median progression-free survival (PFS, months -ms-) as compared to the one observed in VUSs group. (>6 C.I. 95% 2- >12 ms; vs 3 ms, 95% C.I. 3-12 ms). S3 included 9 male and 20 female, (median age, 66 years, range 42-78); 5 pts had family history of pancreatic or breast cancer, 5 pts had a personal history of other cancers (breast and thyroid). In this group,16 pts received a platinum based regimen and 12 pts have been treated without platinum based regimen. Conclusions: Our results suggest that: 1) BRCA pathogenetic mutations rate (8,7%) is in line with literature data and seems not to be related with family or personal history, and to be associated with a better outcome; 2) No BRCA mutations were detected in patients over 70 years. 3) VUSs subgroup do not seem to benefit from platinum-regimen.

Colorectal Cancer Family History Assessment

2011 ◽  
Vol 15 (5) ◽  
pp. E75-E82 ◽  
Author(s):  
Patricia Paul Kelly
Keyword(s):  
Colorectal Cancer ◽  
Family History ◽  
Cancer Family ◽  
Cancer Family History ◽  
Family History Assessment
Sign in / Sign up

Export Citation Format

Share Document